Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs114925667
rs114925667
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C1845274
Disease:
Abnormal conjugate eye movement
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553770577
rs1553770577
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C1845274
Disease:
Abnormal conjugate eye movement
C 0.700 GeneticVariation CLINVAR
dbSNP: rs114925667
rs114925667
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C0549629
Disease:
Abnormal delivery
A 0.700 CausalMutation CLINVAR
dbSNP: rs374052333
rs374052333
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C0549629
Disease:
Abnormal delivery
T 0.700 GeneticVariation CLINVAR
dbSNP: rs114925667
rs114925667
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C0852413
Disease:
Abnormal muscle tone
A 0.700 CausalMutation CLINVAR
dbSNP: rs374052333
rs374052333
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C0852413
Disease:
Abnormal muscle tone
T 0.700 GeneticVariation CLINVAR
dbSNP: rs114925667
rs114925667
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C1859347
Disease:
Abnormal subcutaneous fat tissue distribution
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553770577
rs1553770577
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C1859347
Disease:
Abnormal subcutaneous fat tissue distribution
C 0.700 GeneticVariation CLINVAR
dbSNP: rs114925667
rs114925667
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4025724
Disease:
Abnormality of the cerebral ventricles
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553770577
rs1553770577
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4025724
Disease:
Abnormality of the cerebral ventricles
C 0.700 GeneticVariation CLINVAR
dbSNP: rs114925667
rs114925667
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C1854882
Disease:
Absent speech
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553770577
rs1553770577
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C1854882
Disease:
Absent speech
C 0.700 GeneticVariation CLINVAR
dbSNP: rs114925667
rs114925667
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4317146
Disease:
Acid reflux
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553770577
rs1553770577
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4317146
Disease:
Acid reflux
C 0.700 GeneticVariation CLINVAR
dbSNP: rs114925667
rs114925667
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C0002418
Disease:
Amblyopia
A 0.700 CausalMutation CLINVAR
dbSNP: rs374052333
rs374052333
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C0002418
Disease:
Amblyopia
T 0.700 GeneticVariation CLINVAR
dbSNP: rs114925667
rs114925667
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C0427190
Disease:
Ataxia, Truncal
A 0.700 CausalMutation CLINVAR
dbSNP: rs374052333
rs374052333
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C0427190
Disease:
Ataxia, Truncal
T 0.700 GeneticVariation CLINVAR
dbSNP: rs34116314
rs34116314
Entrez Id: 79876;84129;100532724
Gene Symbol: UBA5;ACAD11;NPHP3-ACAD11
UBA5;ACAD11;NPHP3-ACAD11
CUI: C2985280
Disease:
Blood Protein Measurement
AT 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs114925667
rs114925667
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C0006157
Disease:
Breech Presentation
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553770577
rs1553770577
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C0006157
Disease:
Breech Presentation
C 0.700 GeneticVariation CLINVAR
dbSNP: rs114925667
rs114925667
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4022735
Disease:
Cerebral white matter atrophy
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553770577
rs1553770577
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C4022735
Disease:
Cerebral white matter atrophy
C 0.700 GeneticVariation CLINVAR
dbSNP: rs114925667
rs114925667
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C0008489
Disease:
Chorea
A 0.700 CausalMutation CLINVAR
dbSNP: rs374052333
rs374052333
Entrez Id: 79876;100532724
Gene Symbol: UBA5;NPHP3-ACAD11
UBA5;NPHP3-ACAD11
CUI: C0008489
Disease:
Chorea
T 0.700 GeneticVariation CLINVAR